Details of Disease

General Information of Disease (ID: DISAB1QF)

• Disease Name: Intellectual disability, autosomal dominant 8
• Synonyms: mental retardation, autosomal dominant 8, formerly; intellectual disability, autosomal dominant 8, formerly; NDHMSD; mental retardation, autosomal dominant 8; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; autosomal dominant non-syndromic intellectual disability 8; autosomal dominant intellectual disability 8; MRD8; mental retardation, autosomal dominant type 8; autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1; intellectual disability, autosomal dominant 8; intellectual disability, autosomal dominant type 8; autosomal dominant mental retardation 8; GRIN1 autosomal dominant non-syndromic intellectual disability
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISAB1QF: Intellectual disability, autosomal dominant 8
• Disease Identifiers:
  MONDO ID: MONDO_0013655
  UMLS CUI: C3280282
  OMIM ID: 614254
  MedGen ID: 481912

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRIN1	TTLD29N	Strong	Autosomal dominant	[1]
GRIN1	TTLD29N	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIN1	OTZ5YBO8	Strong	Autosomal dominant	[1]

References

• [1] Ablation of NMDA receptors enhances the excitability of hippocampal CA3 neurons. PLoS One. 2009;4(1):e3993. doi: 10.1371/journal.pone.0003993. Epub 2009 Jan 14.
• [2] GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.J Hum Genet. 2017 Jun;62(6):589-597. doi: 10.1038/jhg.2017.19. Epub 2017 Feb 23.